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TCEA3

Synonyms
TFIIS, TFIIS.H
External resources

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
42
Likely pathogenic
0
VUS
4,604
Likely benign
154
Benign
0

Patient phenotypes

Proportions of phenotypes among 42 patients carring pathogenic or likely pathogenic variants on TCEA3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
38.1%
Constitutional symptom
26.2%
Abnormality of the nervous system
16.7%
Abnormality of the eye
14.3%
Abnormality of blood and blood-forming tissues
11.9%
Abnormality of the musculoskeletal system
11.9%
Abnormality of the ear
9.5%
Abnormality of the immune system
9.5%
Abnormality of head or neck
7.1%
Abnormality of the genitourinary system
7.1%
Growth abnormality
4.8%
Abnormality of limbs
2.4%
Abnormality of the digestive system
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the integument
2.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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